Canonical Allele Identifier: CA015517
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 183793
dbSNP Id: rs772551056
gnomAD v2: 1-17371319-C-T
gnomAD v3: 1-17044824-C-T
gnomAD v4: 1-17044824-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17044824C>T , CM000663.2:g.17044824C>T GRCh38
NC_000001.10:g.17371319C>T , CM000663.1:g.17371319C>T GRCh37
NC_000001.9:g.17243906C>T NCBI36
NG_012340.1:g.14347G>A , LRG_316:g.14347G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.-35G>A ENSP00000481376.2:n.-35G>A
ENST00000491274.6:c.95G>A ENSP00000480482.2:p.Arg32Gln
ENST00000375499.8:c.137G>A MANE Select ENSP00000364649.3:p.Arg46Gln
ENST00000375499.7:c.137G>A ENSP00000364649.3:p.Arg46Gln
ENST00000463045.2:c.-35G>A ENSP00000481376.1:n.-35G>A
ENST00000466613.2:n.149G>A
ENST00000475506.1:n.54G>A
ENST00000485515.5:n.125G>A
ENST00000491274.5:c.95G>A ENSP00000480482.1:p.Arg32Gln
NM_003000.2:c.137G>A , LRG_316t1:c.137G>A NP_002991.2:p.Arg46Gln
NM_003000.3:c.137G>A MANE Select NP_002991.2:p.Arg46Gln